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Article

Hereditary galactosemia.

Metabolism: clinical and experimental - 1 Jun 2018

Demirbas Didem, Coelho Ana I, Rubio-Gozalbo M Estela, Berry Gerard T

Abstract excerpt

Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner. The severe GALT deficiency, or classic galactosemia, is life-threatening in the newborn period. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29409891
DOI: 10.1016/j.metabol.2018.01.025

Genes

GALT
GALE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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